ADRB1

Chr 10

adrenoceptor beta 1

Also known as: ADRB1R, B1AR, BETA1AR, FNSS2, RHR

NCBI Gene: 153ENSG00000043591UniProt: P08588

The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]

ResearchGenerating clinical summary…
2
Active trials
78
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.54
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.000
Z-score 0.31
OE 0.89 (0.54–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.70Z-score
OE missense 0.68 (0.59–0.78)
148 obs / 218.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.54–1.54)
0≤0.351.4
Missense OE?0.68 (0.59–0.78)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 9 / 10.1Missense obs/exp: 148 / 218.8Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADRB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients